目的 总结并分析2012-2014年西北妇女儿童医院筛查中心新生儿先天性甲状腺功能减低症(congenital hypothyroidism,CH)的筛查及治疗、随访情况。方法 新生儿出生72 h后采集足跟血,制成干血滤纸片,采用时间分辨荧光免疫分析法检测滤纸干血斑中促甲状腺素(TSH)的水平,TSH＞9 μU/ml为阳性,阳性病人召回采静脉血,采用化学发光免疫分析技术检测甲状腺功能五项(TSH、T3、T4、FT3、FT4)而确诊。结果 共筛查131 066例,确诊CH 62例,发病率0.47‰ ,确诊后立即口服左旋甲状腺素片(L-T4)替代治疗。在随访的42例中,目前检测甲状腺功能正常、体格生长及智力测试与正常同龄儿童无明显差异。结论 积极开展新生儿筛查,尽早规范化的激素替代治疗及长期随访监测,可使CH患儿避免体格和智力不可逆损害,对改善其预后和生存质量意义重大。

Objective To summarize and analyze the screening result,the treatment and the follow-up investigation of the congenital hypothyroidism (CH) of the newborn screening center of our hospital from 2012 to 2014. Methods Heel blood after the birth of 72 hours were collected and were maked into dried blood filter,then the level of the thyrotropic hormone (TSH) of dried blood spot on filter paper was detected by using the method of time-resolved fluorescence immunoassay.TSH>9 μU/ml,which was the positive sign.The patients who had the positive symptom were recalled and sampled the intravenous blood,and a definite diagnosis was made by using the chemiluminescence immunoassay to test the five items of thyroid function (TSH,T3,T4,FT3,FT4). Results For screening 131 066 cases,there were 62 cases made a definite diagnosis.The morbidity was 0.47‰.They were given replacement therapy by taking levothyrocine (L-T4) immediately.In 42 cases of follow-up investigation,there were normal thyroid function,with no difference on physical growth and intelligence comparing with the normal aged children. Conclusion Screening the newborn,normative hormone replacement therapy as soon as possible and long-term follow-up monitoring can make the CH children avoiding irreversible damage to the physique and intelligence,which is also of great significance to improve the prognosis and survival quality.